Investigating The Correlation Between The Dopamine D2 Receptor Gene-141CIns>Del/TaqIA/TaqIB/TaqID/Ser311Cys/C939T Polymorphism And Primary Dystonia

Objective:To assess the correlation between the dopamine D2 receptor(DRD2) gene single nucleotide polymorphism (SNP) locus (-141CInsDel/TaqIA/TaqIB/TaqID/Ser311Cys/C939T) polymorphism and primary dystonia.Methods:A case-control study was conducted which included 54 patients with primary distonia and 56 normal controls. The correlation between the DRD2 gene -141CIns>Del/TaqIA/TaqIB/TaqID/Ser311-Cys/C939T polymorphism and primary dystonia were performed by Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), and its genotypes as well as genetic mutation frequency were interpreted by agarose gel electrophoresis(AGE). Experimental results using the chi-square test was used for statistical analysis.Results:1.There were no statistically significant difference in the distributions of allelics and genotyps of -141CIns>Del polymorphism of DRD2 gene between the primary dystonia group and the normal control group (p> 0.05). The chi-square values of allelics -141CIns> Del /TaqIA/TaqIB/TaqID/Ser311Cys/C939T were 0.141/0.141/0.419/0.086 /0.038/0.276,and the p values of allelics were 0.707/0.707/0.518/0.769/0.846/0.599; The chi-square values of genotyps were 0.352/0.352/3.811/1.324/3.791/0.355, and the p values of genotyps were 0.839/0.839/0.149/0.742/0.127/0.839.2. There were no statistically significant difference in the distributions of allelics and genotyps of -141CIns>Del/TaqIA/TaqIB/TaqID/Ser311Cys/ C939T polymorphism of DRD2 gene between the blepharospasm group and the normal control group (p>0.05). The chi-square values of allelics-141CIns > Del/TaqIA/TaqIB/TaqID/Ser311Cys/C939T were 0.000/0.281/2.018/0.028/0.000/0.574,and the p values of allelics were 1.000/0.596/0.155/0.867/1.000/0.499; The chi-square values of genotyps were 1.034/0.623/3.398/0.503/0.000/1.068, and the p values of genotyps were 0.746/0.732/0.183/1.000/1.000/0.586.3. There were no statistically significant difference in the distributions of allelics of -141CIns> Del/TaqlA/TaqlB/TaqlD/Ser311Cys/C939T polymorphism of DRD2 gene between the spasmodic torticollis group and the normal control group (p>0.05),and there were no statistically significant difference in the distributions of genotyps of -141CIns> Del /TaqIA/TaqIB/TaqID/C939T polymorphism of DRD2 gene between the spasmodic torticollis group and the normal control group (p>0.05). The chi-square values of allelics -141CIns>Del/TaqlA/TaqlB/TaqlD/Ser311Cys /C939T were 0.384/0.021/0.702/0.088/0.088/0.000,and the p values of allelics were 0.535/0.885/0.402/0.767/0.767/1.000; The chi-square values of genotyps were 2.360/0.145/3.010/0.534/0.009, and the p values of genotyps were0.282/0.930/0.222/1.000/1.000.4. There were statistically significant difference in the distributions of genotyps of Ser311Cys polymorphism of DRD2 gene between the spasmodic torticollis group and the normal control group (p>0.05). The chi-square value of genotyps was 5.597, and the p values of genotyp was 0.033.Conclusion:1.The polymorphism of DRD2 gene SNPs locus -141CIns >Del/TaqIA/TaqIB/TaqID/Ser311Cys/C939T were not associated with primary dystonia, which may not be risk factors for primary dystonia.2. The polymorphism of DRD2 gene SNPs locus -141CIns>Del /TaqIA/TaqIB/TaqID/Ser311Cys/C939T were not associated with blepharospasm, which may not be risk factors for blepharospasm.3. The polymorphism of DRD2 gene SNPs locus -141CIns>Del /TaqlA/TaqIB/TaqID/C939T were not associated with spasmodic torticollis, which may not be risk factors for spasmodic torticollis.4. The polymorphism of DRD2 gene SNP Ser311Cys locu was associated with spasmodic torticollis, which may be one of risk factors for spasmodic torticollis.